Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99342808C= , CM000666.2:g.99342808C= | GRCh38 |
| NC_000004.11:g.100263965C= , CM000666.1:g.100263965C= | GRCh37 |
| NC_000004.10:g.100482988C= | NCBI36 |
| NG_011718.1:g.14953G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.6:c.815G= (ADH1C) MANE Select | ENSP00000426083.1:p.Arg272= | |
| ENST00000639454.1:c.18+9850G= (ADH1B) | ENSP00000491622.1:n.18+9850G= | |
| ENST00000515683.5:c.815G= (ADH1C) | ENSP00000426083.1:p.Arg272= | |
| NM_000669.4:c.815G= (ADH1C) | NP_000660.1:p.Arg272= | |
| NR_133005.1:n.1154+31G= (ADH1C) | ||
| XM_011531588.1:c.713G= (ADH1C) | XP_011529890.1:p.Arg238= | |
| XM_011531589.1:c.695G= (ADH1C) | XP_011529891.1:p.Arg232= | |
| NM_000669.5:c.815G= (ADH1C) MANE Select | NP_000660.1:p.Arg272= | |
| NR_133005.2:n.855+31G= (ADH1C) |